{
    "disease_id": "DOID:0070096",
    "recommended_name": {
        "id": "DOID:0070096",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070096",
        "name": "oculocutaneous albinism type II",
        "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070096",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070096",
            "name": "OCA2",
            "description": ""
        },
        {
            "id": "DOID:0070096",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070096",
            "name": "Oculocutaneous Albinism, Tyrosinase-Positive",
            "description": ""
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "oculocutaneous albinism type 2",
            "description": "Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm."
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "OCA2",
            "description": ""
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "albinism, oculocutaneous, type II, modifier of",
            "description": ""
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "oculocutaneous albinism type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "oculocutaneous albinism, tyrosinase-positive",
            "description": ""
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "Albinoidism",
            "description": ""
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "albinism, oculocutaneous, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "albinism, oculocutaneous, type II",
            "description": ""
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "oculocutaneous albinism tyrosinase positive",
            "description": ""
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "tyrosinase-positive oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MIM:203200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/203200",
            "name": "Albinism, oculocutaneous, 2",
            "description": "Albinism, oculocutaneous, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070096"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070096",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070096",
            "categories": []
        },
        {
            "id": "MONDO:0008746",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "categories": []
        },
        {
            "id": "MIM:203200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/203200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PN14-1",
            "uniprot_ac": "A0A8M9PN14",
            "uniprot_id": "A0A8M9PN14_DANRE",
            "refseq_ac": "XP_021332872",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "P protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "oca2",
                    "type": "recommended"
                },
                {
                    "name": "oca2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PN14-1",
            "evidence": [
                {
                    "id": "0070096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070096"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01727-1",
            "uniprot_ac": "Q01727",
            "uniprot_id": "MSHR_MOUSE",
            "refseq_ac": "NP_032585",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Melanocyte-stimulating hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "MC1-R",
                    "type": "synonym"
                },
                {
                    "name": "MSH-R",
                    "type": "synonym"
                },
                {
                    "name": "Melanocortin receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "extension recessive yellow",
                    "type": "synonym"
                },
                {
                    "name": "melanocortin receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "melanocyte-stimulating hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "tobacco darkening",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mc1r",
                    "type": "recommended"
                },
                {
                    "name": "Mc1r",
                    "type": "synonym"
                },
                {
                    "name": "Mcr1",
                    "type": "synonym"
                },
                {
                    "name": "Msh-r",
                    "type": "synonym"
                },
                {
                    "name": "Mshra",
                    "type": "synonym"
                },
                {
                    "name": "Tob",
                    "type": "synonym"
                },
                {
                    "name": "e",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0070096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070096"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62052-1",
            "uniprot_ac": "Q62052",
            "uniprot_id": "P_MOUSE",
            "refseq_ac": "NP_068679",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "P protein",
                    "type": "recommended"
                },
                {
                    "name": "Melanocyte-specific transporter protein",
                    "type": "synonym"
                },
                {
                    "name": "P protein",
                    "type": "synonym"
                },
                {
                    "name": "Pink-eyed dilution protein",
                    "type": "synonym"
                },
                {
                    "name": "melanocyte-specific transporter protein",
                    "type": "synonym"
                },
                {
                    "name": "pink-eyed dilution protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oca2",
                    "type": "recommended"
                },
                {
                    "name": "D7H15S12",
                    "type": "synonym"
                },
                {
                    "name": "D7Icr28RN",
                    "type": "synonym"
                },
                {
                    "name": "D7Nic1",
                    "type": "synonym"
                },
                {
                    "name": "Oca2",
                    "type": "synonym"
                },
                {
                    "name": "P",
                    "type": "synonym"
                },
                {
                    "name": "p<cas>",
                    "type": "synonym"
                },
                {
                    "name": "p",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62052-1",
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                {
                    "id": "0070096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070096"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04671-1",
            "uniprot_ac": "Q04671",
            "uniprot_id": "P_HUMAN",
            "refseq_ac": "NP_000266",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "P protein",
                    "type": "recommended"
                },
                {
                    "name": "Melanocyte-specific transporter protein",
                    "type": "synonym"
                },
                {
                    "name": "P protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "P-protein",
                    "type": "synonym"
                },
                {
                    "name": "Pink-eyed dilution protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "eye color 2 (central brown)",
                    "type": "synonym"
                },
                {
                    "name": "eye color 3 (brown)",
                    "type": "synonym"
                },
                {
                    "name": "hair color 3 (brown)",
                    "type": "synonym"
                },
                {
                    "name": "melanocyte-specific transporter protein",
                    "type": "synonym"
                },
                {
                    "name": "oculocutaneous albinism II (pink-eye dilution homolog, mouse)",
                    "type": "synonym"
                },
                {
                    "name": "pink-eyed dilution protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "total brown iris pigmentation",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OCA2",
                    "type": "recommended"
                },
                {
                    "name": "BEY1",
                    "type": "synonym"
                },
                {
                    "name": "BEY2",
                    "type": "synonym"
                },
                {
                    "name": "BEY",
                    "type": "synonym"
                },
                {
                    "name": "BOCA",
                    "type": "synonym"
                },
                {
                    "name": "D15S12",
                    "type": "synonym"
                },
                {
                    "name": "EYCL2",
                    "type": "synonym"
                },
                {
                    "name": "EYCL3",
                    "type": "synonym"
                },
                {
                    "name": "EYCL",
                    "type": "synonym"
                },
                {
                    "name": "HCL3",
                    "type": "synonym"
                },
                {
                    "name": "OCA2",
                    "type": "synonym"
                },
                {
                    "name": "PED",
                    "type": "synonym"
                },
                {
                    "name": "P",
                    "type": "synonym"
                },
                {
                    "name": "SHEP1",
                    "type": "synonym"
                },
                {
                    "name": "SLC13B1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04671-1",
            "evidence": [
                {
                    "id": "203200",
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                    "url": "https://www.omim.org/entry/203200"
                },
                {
                    "id": "0070096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070096"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B6ZGR5-1",
            "uniprot_ac": "B6ZGR5",
            "uniprot_id": "B6ZGR5_RAT",
            "refseq_ac": "NP_001388020",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Melanocyte-stimulating hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "MSH-R",
                    "type": "synonym"
                },
                {
                    "name": "Melanocortin receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha melanocyte stimulating hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "melanocyte-stimulating hormone receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mc1r",
                    "type": "recommended"
                },
                {
                    "name": "Mc1r",
                    "type": "synonym"
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            ],
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                    "id": "0070096",
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            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6B3Q4-1",
            "uniprot_ac": "A0A8I6B3Q4",
            "uniprot_id": "A0A8I6B3Q4_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
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                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "OCA2 melanosomal transmembrane protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oca2",
                    "type": "recommended"
                }
            ],
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                {
                    "id": "0070096",
                    "database": "AGR",
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            ]
        },
        {
            "uniprot_canonical_ac": "Q9VR47-1",
            "uniprot_ac": "Q9VR47",
            "uniprot_id": "Q9VR47_DROME",
            "refseq_ac": "NP_001285607",
            "glycoprotein": "no",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG12787-PJ",
                    "type": "synonym"
                },
                {
                    "name": "Hoepel1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Hoepel1, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "hoe1-PJ",
                    "type": "synonym"
                },
                {
                    "name": "hoepel1, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "hoepel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hoe1",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH02636",
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                },
                {
                    "name": "CG11918",
                    "type": "synonym"
                },
                {
                    "name": "CG12787",
                    "type": "synonym"
                },
                {
                    "name": "CG2831",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12787",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12787",
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                },
                {
                    "name": "Hoe1",
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                {
                    "name": "hoe-1",
                    "type": "synonym"
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                {
                    "name": "hoe1",
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                {
                    "name": "hoe",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0070096",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070096"
                }
            ]
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        {
            "uniprot_canonical_ac": "Q9W024-1",
            "uniprot_ac": "Q9W024",
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                {
                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Citrate transporter-like domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG13801-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG13801",
                    "type": "recommended"
                },
                {
                    "name": "CG13801",
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                },
                {
                    "name": "Dmel\\CG13801",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13801",
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                }
            ],
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                {
                    "id": "0070096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070096"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VR48-1",
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                {
                    "name": "Drosophila melanogaster",
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                }
            ],
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                {
                    "name": "CG15624-PA",
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                },
                {
                    "name": "Hoepel2",
                    "type": "synonym"
                },
                {
                    "name": "hoe2-PA",
                    "type": "synonym"
                },
                {
                    "name": "hoepel2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "hoe2",
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                {
                    "name": "CG15624",
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                {
                    "name": "Dmel\\CG15624",
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                {
                    "name": "Dmel_CG15624",
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                },
                {
                    "name": "hoe2",
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                }
            ],
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                {
                    "id": "0070096",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VU30-1",
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                {
                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Citrate transporter-like domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG11262-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Dmel\\CG11262",
                    "type": "recommended"
                },
                {
                    "name": "CG11262",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11262",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11262",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0070096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070096"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KRS1-1",
            "uniprot_ac": "Q7KRS1",
            "uniprot_id": "Q7KRS1_DROME",
            "refseq_ac": "NP_724369",
            "glycoprotein": "no",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Citrate transporter-like domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG31693-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG31693",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH25177",
                    "type": "synonym"
                },
                {
                    "name": "CG31693",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31693",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31693",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KRS1-1",
            "evidence": [
                {
                    "id": "0070096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070096"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01726-1",
            "uniprot_ac": "Q01726",
            "uniprot_id": "MSHR_HUMAN",
            "refseq_ac": "NP_002377",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Melanocyte-stimulating hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "MC1-R",
                    "type": "synonym"
                },
                {
                    "name": "MSH-R",
                    "type": "synonym"
                },
                {
                    "name": "Melanocortin receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha melanocyte stimulating hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "melanocyte-stimulating hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "melanotropin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MC1R",
                    "type": "recommended"
                },
                {
                    "name": "CMM5",
                    "type": "synonym"
                },
                {
                    "name": "MC1R",
                    "type": "synonym"
                },
                {
                    "name": "MSH-R",
                    "type": "synonym"
                },
                {
                    "name": "MSHR",
                    "type": "synonym"
                },
                {
                    "name": "SHEP2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01726-1",
            "evidence": [
                {
                    "id": "0070096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070096"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070096"
}